Article
Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability.
Human mutation - 1 Jan 2013
Bisschoff Izak J, Zeschnigk Christine, Horn Denise, Wellek Brigitte, Rieß Angelika, Wessels Maja, Willems Patrick, Jensen Peter, Busche Andreas, Bekkebraten Jens, Chopra Maya, Hove Hanne Dahlgaard, Evers Christina, Heimdal Ketil, Kaiser Ann-Sophie, Kunstmann Erdmut, Robinson Kristina Lagerstedt, Linné Maja, Martin Patricia, McGrath James, Pradel Winnie, Prescott Katrina E, Roesler Bernd, Rudolf Gorazd, Siebers-Renelt Ulrike, Tyshchenko Nataliya, Wieczorek Dagmar, Wolff Gerhard, Dobyns William B, Morris-Rosendahl Deborah J
Abstract excerpt
OFD1, now recognized as a ciliopathy, is characterized by malformations of the face, oral cavity and digits, and is transmitted as an X-linked condition with lethality in males. Mutations in OFD1 also cause X-linked Joubert syndrome (JBTS10) and Simpson-Golabi-Behmel syndrome type 2 (SGBS2). We h...
Topics
- Adolescent
- Alternative Splicing
- Base Sequence
- Brain
- Child
- DNA Mutational Analysis
- Exons
- Family Health